Introduction. Significant progress has been made in identifying the mechanisms with impact on disease remission and restoration of locomotor function in juvenile idiopathic arthritis (JIA). The treatment response and intolerance are multifactorial and require validation as comprehensive predictive instruments.
The objective of the study was to assess the role of MTHFR gene polymorphisms as predictors of methotrexate efficacy and toxicity in JIA.
Material and methods. 68 subjects with JIA and methotrexate treatment were tested by polymerase chain reaction. FibroScan elastographic liver exploration was performed in 50 patients.
Results. Genetic mutations of MTHFR have been identified in more than one third of enrolled subjects. These patients can be characterized by an increased level of combined heterozygosity (Ho = 0.43/0.44) and isolated homozygosity 0.48 observed for 677TT and 677CT + 1298AC polymorphisms. The examination by one-dimensional transient liver elastography revealed high median liver elasticity values in the group of children without mutation in the MTHFR gene, while patients with mutations in the MTHFR gene on methotrexate therapy had mean median liver elasticity values 1.13 times higher than the mean elasticity in healthy children.
Conclusions. In this study, efficacy and toxicity endpoints for methotrexate were determined: the presence of pathological polymorphisms 677TT and 677CT + 1298AC in the MTHFR gene, and detection of low values of median liver elasticity (in methotrexate monotherapy). The use of liver elastography techniques is recommended for the assessment of subclinical liver as a target organ damage in the setting of methotrexate administration.
Keywords: juvenile idiopathic arthritis, MTHFR, liver elastography, gene, intolerance.
Full text sources https://doi.org/10.31688/ABMU.2025.60.1.08
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Address for correspondence:
Vladimir IACOMI
Department of Pediatrics, Nicolae Testemitanu State University of Medicine and Pharmacy Department of Rheumatology, Public Healthcare Institution – Mother and Child Institute, Chisinau, Republic of Moldova
Email: vladimir.iacomi@usmf.md; Phone: +373 68080995
